Varaico: Literature-Extracted Genetic Variants

CC2D1B

1p32.3 (UCSC)GTEx

61 papers

Pfam Domains

CC2D1A-B_DM14aa 170–225UCSCCoiled-coil and C2 domain-containing protein 1, DM14 domain

CC2D1A-B_DM14aa 283–338UCSCCoiled-coil and C2 domain-containing protein 1, DM14 domain

CC2D1A-B_DM14aa 388–443UCSCCoiled-coil and C2 domain-containing protein 1, DM14 domain

CC2D1A-B_DM14aa 540–595UCSCCoiled-coil and C2 domain-containing protein 1, DM14 domain

C2aa 699–817UCSCC2 domain

Gene Aliases

HGNC Name

coiled-coil and C2 domain containing 1B

HGNC Alias Symbols

KIAA1836; Freud-2; Lgd1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 124 variants

4 papers

NM_001330585.2

p.M35T

c.104T>C

3 papers

NM_001330585.2

p.M35I

c.105G>T

3 papers

NM_001330585.2

p.M35I

c.105G>C

3 papers

NM_001330585.2

p.M35I

c.105G>A

2 papers

NM_001330585.2

p.E96_E97ins0

c.288_290dupGGA

2 papers

NM_001330585.2

p.E96_E97del1

c.288_290delTCC

2 papers

NM_001330585.2

p.R288_Y290del3

c.862_869del9

2 papers

NM_001330585.2

p.R426P

c.1277G>C

1 paper

NM_001330585.2

p.M1T

c.2T>C

1 paper

NM_001330585.2

p.M1insFs

c.2dupT

1 paper

NM_001330585.2

p.M1delFs

c.2delA

1 paper

NM_001330585.2

p.M1insFs

c.3dupG